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Terminology chevron_right Concepts chevron_right 28183005

Production
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28183005
The component that hold information about this concept.
Fructose-biphosphatase deficiency (disorder)
Fructose-biphosphatase deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Fructose-biphosphatase deficiency (disorder)

SCTID: 28183005, Primitive, Active


28183005|Fructose-biphosphatase deficiency (disorder)|
  • en Fructose-1,6-bisphosphatase deficiency
  • en Fructose-1,6-diphosphatase deficiency
  • en Fructose-biphosphatase deficiency
  • en Fructose-biphosphatase deficiency (disorder)
  • en Hereditary fructose-1,6-phosphatase deficiency

28183005 |Fructose-biphosphatase deficiency (disorder)|

<<< 78548001 |Enzymopathy (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    39452003 |Fructose metabolism disorder (disorder)| +
    86095007 |Inborn error of metabolism (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

1225814015 - Fructose-1,6-bisphosphatase deficiency (en) View

1225814015
en
Synonym (core metadata concept)
Fructose-1,6-bisphosphatase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

47182012 - Fructose-1,6-diphosphatase deficiency (en) View

47182012
en
Synonym (core metadata concept)
Fructose-1,6-diphosphatase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

47181017 - Fructose-biphosphatase deficiency (en) View

47181017
en
Synonym (core metadata concept)
Fructose-biphosphatase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

758834017 - Fructose-biphosphatase deficiency (disorder) (en) View

758834017
en
Fully specified name (core metadata concept)
Fructose-biphosphatase deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

47183019 - Hereditary fructose-1,6-phosphatase deficiency (en) View

47183019
en
Synonym (core metadata concept)
Hereditary fructose-1,6-phosphatase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

39452003 View

39452003
Fructose metabolism disorder (disorder)
Fructose disorder
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

78548001 View

78548001
Enzymopathy (disorder)
Enzymopathy
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

85995004 View

85995004
Autosomal recessive hereditary disorder (disorder)
Hereditary disorder trait, nos
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

86095007 View

86095007
Inborn error of metabolism (disorder)
Inborn error of metabolism
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (628d7f93-abc5-51a9-81ae-67bc3588e0c4) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E74.1
TRUE
ALWAYS E74.1
447561005 |Snomed ct source code to target map code correlation not specified (foundation metadata concept)|
447637006 |Map source concept is properly classified (foundation metadata concept)|
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